Mutagenetix > Incidental Mutation

Incidental Mutation 'R9172:Atp9b'

696508

Institutional Source

Beutler Lab

Gene Symbol

Atp9b

Ensembl Gene

ENSMUSG00000024566

Gene Name

ATPase, class II, type 9B

Synonyms

IIb

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R9172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80734141-80934058 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 80917778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 73 (R73*)

Ref Sequence

ENSEMBL: ENSMUSP00000089394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091790] [ENSMUST00000225205] [ENSMUST00000225235] [ENSMUST00000225980] [ENSMUST00000226064]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000091790
AA Change: R73*

SMART Domains

Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: R73*

Domain	Start	End	E-Value	Type
low complexity region	11	39	N/A	INTRINSIC
Pfam:PhoLip_ATPase_N	110	181	5.3e-21	PFAM
Pfam:E1-E2_ATPase	186	444	9.1e-15	PFAM
Pfam:Hydrolase	463	885	2.7e-13	PFAM
Pfam:HAD	464	882	4.8e-14	PFAM
Pfam:Cation_ATPase	563	664	3.7e-7	PFAM
Pfam:PhoLip_ATPase_C	899	1128	1.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224709

Predicted Effect

probably null
Transcript: ENSMUST00000225205
AA Change: R73*

Predicted Effect

probably null
Transcript: ENSMUST00000225235
AA Change: R73*

Predicted Effect

probably null
Transcript: ENSMUST00000225980
AA Change: R73*

Predicted Effect

probably benign
Transcript: ENSMUST00000226064

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	C	7: 127,385,454	K159E	probably benign	Het
Accsl	A	T	2: 93,861,488	L332Q	probably damaging	Het
Adcy1	A	G	11: 7,160,317	N855D	probably damaging	Het
Adgrl3	T	A	5: 81,774,404	C1199S	probably benign	Het
Alyref	G	A	11: 120,596,016	R140C	probably benign	Het
Arhgap26	A	T	18: 39,245,329	I92F	probably damaging	Het
Btaf1	G	A	19: 37,000,230	A1483T	probably damaging	Het
Casc1	A	G	6: 145,177,449	F564L	probably benign	Het
Cmtr2	T	C	8: 110,222,129	L357P	probably damaging	Het
Commd7	A	T	2: 153,628,554	L51Q	possibly damaging	Het
Cpd	T	A	11: 76,784,426	I1290L	probably benign	Het
Cry2	C	A	2: 92,413,648	E393D	probably damaging	Het
Ctsm	A	T	13: 61,537,829	M74K		Het
Dync2h1	T	C	9: 7,031,771	Y3491C	probably damaging	Het
Erc1	A	C	6: 119,824,881	N58K	possibly damaging	Het
Fbxw21	T	C	9: 109,146,696	T211A	probably benign	Het
Fry	T	C	5: 150,413,328	V1388A	probably benign	Het
Fuk	A	G	8: 110,883,925	W949R	probably damaging	Het
Gca	T	G	2: 62,690,024	I176S	probably damaging	Het
Gimap7	A	T	6: 48,723,827	K116*	probably null	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,710		probably benign	Het
Gm5415	G	T	1: 32,546,084	H248Q	probably benign	Het
Gm906	A	G	13: 50,247,381	F303S	probably benign	Het
Gm9195	A	C	14: 72,473,714	L428R	probably damaging	Het
Grin2b	A	G	6: 135,779,257	I490T	possibly damaging	Het
Kif24	T	C	4: 41,400,442	T499A	probably benign	Het
Mbtps1	G	A	8: 119,533,369	T413I	probably damaging	Het
Med4	A	T	14: 73,513,925	S105C	probably benign	Het
Mgat1	G	A	11: 49,261,083	R131Q	probably damaging	Het
Mroh4	T	C	15: 74,606,112	*984W	probably null	Het
Mybpc1	T	C	10: 88,543,753	E628G	possibly damaging	Het
Myh8	C	T	11: 67,292,434	P713L	possibly damaging	Het
Myo7a	T	C	7: 98,083,162	D706G	probably benign	Het
Nbas	T	A	12: 13,374,750	C997S	possibly damaging	Het
Nkx2-1	C	A	12: 56,534,967	G32C	probably damaging	Het
Npas3	A	G	12: 54,065,870	T466A	probably benign	Het
Olfr1085	T	A	2: 86,657,535	I308L	probably benign	Het
Olfr487	T	C	7: 108,211,962	E189G	probably benign	Het
Opa1	C	T	16: 29,620,414	R683C	probably benign	Het
Opa3	C	T	7: 19,255,541	R110C	probably damaging	Het
Ppfibp2	T	A	7: 107,738,318	L609*	probably null	Het
Pygo2	T	A	3: 89,433,310	D338E	possibly damaging	Het
Pzp	A	T	6: 128,525,209	M59K	probably benign	Het
Reln	A	G	5: 21,950,817		probably null	Het
Ripor1	A	G	8: 105,621,201	D1097G	unknown	Het
Rmdn3	T	C	2: 119,138,382	K443E	probably benign	Het
Rnf145	A	G	11: 44,557,435	D373G	possibly damaging	Het
Sec23b	A	T	2: 144,559,259	E13D	probably benign	Het
Slc39a6	A	G	18: 24,582,342	F707S	probably damaging	Het
Sox11	G	A	12: 27,341,537	A291V	possibly damaging	Het
Spg20	T	A	3: 55,124,846	V367D	possibly damaging	Het
Strap	A	T	6: 137,741,367	K156N	probably benign	Het
Stxbp5	T	A	10: 9,769,408	I951F	possibly damaging	Het
Taar7a	T	C	10: 23,992,779	I235V	probably benign	Het
Tek	T	A	4: 94,804,346	N230K	probably benign	Het
Tyw1	T	A	5: 130,296,679	C469*	probably null	Het
Vcan	T	C	13: 89,679,931	H3132R	probably damaging	Het
Vmn2r24	A	G	6: 123,806,473	D544G	probably damaging	Het
Vmn2r3	A	T	3: 64,278,982	M94K	possibly damaging	Het
Vps33a	T	C	5: 123,536,541	T388A	probably benign	Het
Vta1	A	G	10: 14,675,999	I152T	probably damaging	Het
Vtcn1	A	G	3: 100,892,549	D242G	probably benign	Het
Zfp12	T	A	5: 143,245,465	C548S	probably damaging	Het
Zfp263	A	G	16: 3,749,459	D546G	probably benign	Het
Zfp324	T	A	7: 12,970,762	C293S	probably damaging	Het
Zscan4c	A	T	7: 11,009,892	I473F	possibly damaging	Het

Other mutations in Atp9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Atp9b	APN	18	80917888	intron	probably benign
IGL00769:Atp9b	APN	18	80912853	missense	probably benign	0.08
IGL00851:Atp9b	APN	18	80765910	missense	probably damaging	1.00
IGL01529:Atp9b	APN	18	80844611	intron	probably benign
IGL01637:Atp9b	APN	18	80756455	missense	probably benign	0.06
IGL01973:Atp9b	APN	18	80758303	missense	probably benign	0.02
IGL02082:Atp9b	APN	18	80891930	intron	probably benign
IGL02560:Atp9b	APN	18	80762198	missense	probably benign	0.23
IGL02981:Atp9b	APN	18	80754289	missense	possibly damaging	0.93
IGL03151:Atp9b	APN	18	80776850	missense	probably benign	0.28
IGL03304:Atp9b	APN	18	80917877	missense	probably damaging	1.00
IGL03348:Atp9b	APN	18	80836422	missense	possibly damaging	0.88
R0056:Atp9b	UTSW	18	80765803	missense	probably damaging	0.99
R0355:Atp9b	UTSW	18	80909585	intron	probably benign
R0366:Atp9b	UTSW	18	80762102	missense	probably damaging	1.00
R0557:Atp9b	UTSW	18	80765922	missense	probably damaging	1.00
R0612:Atp9b	UTSW	18	80753956	missense	possibly damaging	0.81
R1099:Atp9b	UTSW	18	80858626	missense	probably damaging	1.00
R1126:Atp9b	UTSW	18	80778954	missense	probably damaging	1.00
R1499:Atp9b	UTSW	18	80762138	missense	probably damaging	0.99
R1499:Atp9b	UTSW	18	80778907	missense	probably benign	0.02
R1764:Atp9b	UTSW	18	80909591	critical splice donor site	probably null
R1780:Atp9b	UTSW	18	80776897	nonsense	probably null
R1782:Atp9b	UTSW	18	80765922	missense	probably damaging	1.00
R1835:Atp9b	UTSW	18	80778883	missense	probably benign	0.00
R1859:Atp9b	UTSW	18	80749920	missense	possibly damaging	0.95
R1953:Atp9b	UTSW	18	80754307	missense	possibly damaging	0.80
R2140:Atp9b	UTSW	18	80736087	missense	probably damaging	0.99
R2191:Atp9b	UTSW	18	80753051	missense	probably damaging	1.00
R4118:Atp9b	UTSW	18	80749829	missense	possibly damaging	0.83
R4605:Atp9b	UTSW	18	80753149	critical splice acceptor site	probably null
R4654:Atp9b	UTSW	18	80891878	missense	probably benign	0.00
R4767:Atp9b	UTSW	18	80753070	missense	probably damaging	1.00
R4775:Atp9b	UTSW	18	80765769	critical splice donor site	probably null
R4936:Atp9b	UTSW	18	80736093	missense	possibly damaging	0.58
R5096:Atp9b	UTSW	18	80762184	missense	probably benign	0.39
R5279:Atp9b	UTSW	18	80912858	missense	probably damaging	0.98
R5394:Atp9b	UTSW	18	80776837	missense	probably benign	0.16
R5774:Atp9b	UTSW	18	80933932	missense	probably damaging	0.96
R5877:Atp9b	UTSW	18	80752789	missense	probably benign
R6080:Atp9b	UTSW	18	80738808	missense	probably benign	0.03
R6170:Atp9b	UTSW	18	80877347	missense	probably benign	0.16
R6250:Atp9b	UTSW	18	80756521	missense	probably benign	0.01
R6340:Atp9b	UTSW	18	80778900	missense	probably benign	0.38
R6498:Atp9b	UTSW	18	80777015	missense	probably benign	0.03
R6620:Atp9b	UTSW	18	80808687	nonsense	probably null
R6632:Atp9b	UTSW	18	80808649	missense	probably damaging	1.00
R6665:Atp9b	UTSW	18	80917735	missense	probably benign	0.26
R6821:Atp9b	UTSW	18	80847248	missense	probably damaging	1.00
R6927:Atp9b	UTSW	18	80891857	missense	possibly damaging	0.63
R6977:Atp9b	UTSW	18	80753102	missense	probably damaging	1.00
R7133:Atp9b	UTSW	18	80909656	missense
R7188:Atp9b	UTSW	18	80917826	missense
R7396:Atp9b	UTSW	18	80736842	missense
R7432:Atp9b	UTSW	18	80765841	missense
R7457:Atp9b	UTSW	18	80917618	splice site	probably null
R7877:Atp9b	UTSW	18	80847197	missense
R8072:Atp9b	UTSW	18	80765061	missense
R8167:Atp9b	UTSW	18	80847183	missense
R8420:Atp9b	UTSW	18	80844591	missense
R8700:Atp9b	UTSW	18	80753146	missense
R8830:Atp9b	UTSW	18	80765800	missense
R8884:Atp9b	UTSW	18	80795347	missense
R9463:Atp9b	UTSW	18	80765836	missense
R9735:Atp9b	UTSW	18	80795414	missense
Z1176:Atp9b	UTSW	18	80765865	missense

Predicted Primers

PCR Primer
(F):5'- TCCCTTTCAGAACAGCATCC -3'
(R):5'- TGGCCTGATGTTATTCCAGATGAAATG -3'

Sequencing Primer
(F):5'- GTTGCTAGTATCCTCCACAATGACAG -3'
(R):5'- GTACTGTAACAGAAGACTGCTTAGC -3'

Posted On

2022-02-07